ARSB substrates Defective ARSB does not hydrolyse sulfate from GalNAc4S Authored: Jassal, B, 2012-05-28 Defective ARSB does not hydrolyse sulfate from N-acetylgalactosamine 4-sulfate units of DS/CS Defects in arylsulfatase B (ARSB, N-acetylgalactosamine 4-sulfatase; MIM:611542) cause mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200), an autosomal recessive lysosomal storage disorder. Severe forms of the disease are caused by the ARSB mutations Y86del (Karageorgos et al. 2004), P116H (Villani et al. 1999), C117R (Jin et al. 1992), G144R (Isbrandt et al. 1994) and R95Q/H393P (Litjens et al. 1996). Edited: Jassal, B, 2012-05-28 Pubmed10036316 Pubmed14974081 Pubmed1550123 Pubmed8116615 Pubmed8651289 Reactome Database ID Release 432282889 Reactome, http://www.reactome.org ReactomeREACT_147883 Reviewed: Alves, Sandra, 2012-08-27 Reviewed: Coutinho, Maria, 2012-08-27